mitochondrial DNA mutations

ミトコンドリアDNA異常

WordNet

1. (genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
2. a change or alteration in form or qualities
3. the 4th letter of the Roman alphabet (同)d

PrepTutorEJDIC

1. 変化,俸転 / (生物の)突然変異;その変種
2. deuteriumの化学記号
3. deoxyribonucleic acidディオキシリボ核酸

UpToDate Contents

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• 1. ミトコンドリアの構造、機能、および遺伝学 mitochondrial structure function and genetics
• 2. ミトコンドリア細胞症における腎病変 renal involvement in the mitochondrial cytopathies
• 3. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases
• 4. 膵外分泌癌の分子学的病因 molecular pathogenesis of exocrine pancreatic cancer
• 5. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis

English Journal

• Human Chromosome Y and Haplogroups; introducing YDHS Database.

• Tiirikka T1, Moilanen JS.
• Clinical and translational medicine.Clin Transl Med.2015 Dec;4(1):60. doi: 10.1186/s40169-015-0060-7. Epub 2015 Jun 10.
• BACKGROUND: As the high throughput sequencing efforts generate more biological information, scientists from different disciplines are interpreting the polymorphisms that make us unique. In addition, there is an increasing trend in general public to research their own genealogy, find distant relative
• PMID 26061870

• Bone metastasis in prostate cancer: Recurring mitochondrial DNA mutation reveals selective pressure exerted by the bone microenvironment.

• Arnold RS1, Fedewa SA2, Goodman M3, Osunkoya AO4, Kissick HT5, Morrissey C6, True LD7, Petros JA8.
• Bone.Bone.2015 Sep;78:81-6. doi: 10.1016/j.bone.2015.04.046. Epub 2015 May 5.
• BACKGROUND: Cancer progression and metastasis occur such that cells with acquired mutations enhancing growth and survival (or inhibiting cell death) increase in number, a concept that has been recognized as analogous to Darwinian evolution of species since Peter C. Nowell's description in 1976. Sele
• PMID 25952970

• Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

• Tetreault M1, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Canada Consortium, Michaud JL, Majewski J.
• Human genetics.Hum Genet.2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23.
• Leigh syndrome (LS) is a rare heterogeneous progressive neurodegenerative disorder usually presenting in infancy or early childhood. Clinical presentation is variable and includes psychomotor delay or regression, acute neurological or acidotic episodes, hypotonia, ataxia, spasticity, movement disord
• PMID 26099313

Related Links

• Mitochondrial DNA mutations in human disease.

1. IUBMB Life. 2006 Mar;58(3):143-51. Mitochondrial DNA mutations in human disease. Greaves LC(1), Taylor RW. Author information: (1)Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry ...

• WebHome < MITOMAP < Foswiki

MITOMAP A human mitochondrial genome database A compendium of polymorphisms and mutations in human mitochondrial DNA MITOMAP reports published and unpublished data on human mitochondrial DNA variation. Currently ...

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★リンクテーブル★

リンク元	「ミトコンドリアDNA変異」「ミトコンドリアDNA異常」
関連記事	「D」「DNA」「mitochondrial」「mitochondrial DNA」

「ミトコンドリアDNA変異」

　　[★]

英

mitochondrial DNA mutations

「ミトコンドリアDNA異常」

　　[★]

英

mitochondrial DNA mutations

「D」

　　[★]

• アスパラギン酸
• ジヒドロウリジン
• 遠位の distal,
• うつ病 depression
• 下行結腸 descending colon(大腸内視鏡検査の結果を記載するときに用いる)

　 　

「DNA」

　　[★]

英

deoxyribonucleic acid

同

デオキシリボ核酸

関

リボ核酸 RNA

　

「mitochondrial」

　　[★]

• adj.

• ミトコンドリアの

関

mitochondria、mitochondrially、mitochondrion

「mitochondrial DNA」

　　[★] ミトコンドリアDNA mtDNA